Canonical Allele Identifier: CA7807672

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2140820
• ClinVar RCV Id: RCV003056642
• dbSNP Id: rs781337088
• ExAC: 16:1412146 C / T
• gnomAD v2: 16-1412146-C-T
• gnomAD v3: 16-1362145-C-T
• gnomAD v4: 16-1362145-C-T
• MyVariant Identifiers: chr16:g.1412146C>T (hg19) ; chr16:g.1362145C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362145C>T , CM000678.2:g.1362145C>T	GRCh38
NC_000016.9:g.1412146C>T , CM000678.1:g.1412146C>T	GRCh37
NC_000016.8:g.1352147C>T	NCBI36
NG_016985.1:g.15247C>T
NG_033129.1:g.57560G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.510+14C>T
ENST00000529110.2:c.495+14C>T	ENSP00000435349.2:n.495+14C>T
ENST00000529957.6:n.469+14C>T
ENST00000683366.1:c.*143+14C>T	ENSP00000507283.1:n.*143+14C>T
ENST00000683887.1:c.459+14C>T	ENSP00000506886.1:n.459+14C>T
ENST00000684100.1:n.405+14C>T
ENST00000684126.1:n.469+14C>T
ENST00000684688.1:n.1036+14C>T
ENST00000204679.9:c.411+14C>T MANE Select	ENSP00000204679.4:n.411+14C>T
ENST00000204679.8:c.411+14C>T	ENSP00000204679.4:n.411+14C>T
ENST00000527076.1:n.1427+14C>T
ENST00000527168.5:n.447+14C>T
ENST00000529110.1:c.478+14C>T
ENST00000529957.5:n.510+14C>T
NM_032520.4:c.411+14C>T	NP_115909.1:n.411+14C>T
XM_017023782.1:c.459+14C>T	XP_016879271.1:n.459+14C>T
XM_017023783.1:c.51+14C>T	XP_016879272.1:n.51+14C>T
NM_032520.5:c.411+14C>T MANE Select	NP_115909.1:n.411+14C>T